SERTM1

Chr 13

serine rich and transmembrane domain containing 1

Also known as: C13orf36

NCBI Gene: 400120 ENSG00000180440 UniProt: A2A2V5

SERTM1 encodes a protein localized to intracellular membrane-bounded organelles, though its specific molecular function remains unclear. Mutations in this gene have been associated with neurodevelopmental disorders, but the clinical phenotype and inheritance pattern are not well-established based on the available information. The gene shows relatively low constraint to loss-of-function variants, suggesting some tolerance to protein disruption.

ResearchSummary from RefSeq

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SERTM1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 650

102 rare PASS variants

Rare truncating (LoF)

1 in 240,000

3 rare PASS variants

Rare synonymous (reference)

1 in 1,200

54 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SERTM1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 1,800	≈ 1 in 280,000
South Asian	~43k	1 in 590	≈ 1 in 43,000
Remaining (unassigned)	~30k	1 in 630	none seen
European (Finnish)	~27k	1 in 3,000	none seen
Admixed American	~22k	1 in 1,500	none seen
African / African American	~21k	1 in 1,300	none seen
East Asian	~20k	1 in 1,600	none seen
Ashkenazi Jewish	~13k	≈ 1 in 6,500	none seen
Middle Eastern	~2,884	≈ 1 in 2,900	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓